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People with neuropsychiatric symptoms often experience delay in accurate diagnosis. Although cerebrospinal fluid neurofilament light (CSF NfL) shows promise in distinguishing neurodegenerative disorders (ND) from psychiatric disorders (PSY), its accuracy in a diagnostically challenging cohort longitudinally is unknown.
We collected longitudinal diagnostic information (mean = 36 months) from patients assessed at a neuropsychiatry service, categorising diagnoses as ND/mild cognitive impairment/other neurological disorders (ND/MCI/other) and PSY. We pre-specified NfL > 582 pg/mL as indicative of ND/MCI/other.
Diagnostic category changed from initial to final diagnosis for 23% (49/212) of patients. NfL predicted the final diagnostic category for 92% (22/24) of these and predicted final diagnostic category overall (ND/MCI/other vs. PSY) in 88% (187/212), compared to 77% (163/212) with clinical assessment alone.
CSF NfL improved diagnostic accuracy, with potential to have led to earlier, accurate diagnosis in a real-world setting using a pre-specified cut-off, adding weight to translation of NfL into clinical practice.
Adverse events during the perinatal period have traditionally been thought to contribute to the risk of febrile seizures although an association has not been found in large epidemiological studies. Disease-discordant twins provide a means to assess the role of non-shared environmental factors while matching for confounding factors and avoiding difficulties of epidemiological studies in singletons. This study aimed to examine the association of obstetric events and febrile seizures in a community-based twin study. Twenty-one twin pairs discordant for febrile seizures were ascertained from a community-based twin register. Obstetric events were scored using the McNeil-Sjöström Scale for Obstetric Complications and expressed as a summary score (OC score). The frequency of individual obstetric events in affected and unaffected twins, the within-pair differences in OC scores and other markers of perinatal risk including birthweight, birth order and Apgar scores were examined. No significant difference was found in the frequency of individual obstetric events, nor in OC scores between affected and unaffected twins. No differences in birth weight, birth order, 1- or 5-minute Apgar scores were observed. Our results confirm previous findings that obstetric events are not associated with the risk of febrile seizures.
The identification of genetic factors that confer susceptibility to the epilepsies has to date been the focus of genetic efforts in this field. Few studies have assessed the genetic contribution to disease course in epilepsy, yet an understanding of the genetic influences on epilepsy outcome is key to developing new therapeutic strategies. The aim of this study was to assess the genetic contributions to epilepsy outcome in twin pairs concordant for epilepsy. We studied 37 epilepsy concordant twin pairs (27 monozygotic, 10 dizygotic) in whom there were no recognized environmental contributions (e.g., acquired brain injury) to epilepsy, and in whom the most likely cause for epilepsy was a shared genetic susceptibility. Clinical outcome was determined using the binary measure of Seizure Status (seizure remission or recurrence) and on a six-category ordinal Outcome Scale. Epilepsy outcome was independent of age of seizure onset, age at assessment and major epilepsy syndrome diagnosis. The proportion of twin pairs concordant for Seizure Status was 0.81 (22/27) for monozygous and 1.0 (10/10) for dizygous pairs, p = 0.3. Within-pair correlation in outcome (Outcome Scale) was 0.60 (95% CI: 0.32, 0.78) in monozygous and 0.78 (0.48, 0.92) in dizygous pairs. These data provide no evidence for genetic influences on epilepsy outcome independent of those that contribute to disease susceptibility. The observed high correlations for outcome suggest that, for epilepsy, susceptibility genes also have a major influence on outcome.
Paolo Tinuper, Institute of Clinic al Neurology, University of Bologna, Italy,
Elio Lugaresi, Institute of Clinic al Neurology, University of Bologna, Italy,
Federico Vigevano, Section of Neurophysiology, Bambino Ges Children's Hospital, Rome, Italy,
Samuel F. Berkovic, Department of Neurology, Austin and Repatriation Medical Centre, University of Melbourne, Vic toria, Australia
Epilepsy is a chronic condition characterized by recurring seizures. In most epileptic syndromes spontaneous seizures are random, i.e they occur independently from the patient's state of arousal. However, the role of the sleep state, and particularly different stages of sleep, in facilitating ictal or interictal discharges, has been the object of several studies and recent reviews (Shouse et al., 1997a, b).
The synchronized EEG activity and preserved muscular tone characterizing the early stage of sleep facilitate the propagation of interictal discharges and seizure onset, whereas inhibited muscular tone and desynchronized EEG activity prevent seizure onset during Rem sleep. Moreover, thalamocortical drive evoking physiological sleep transients (K-complexes and spindles activity) and burst-pause firing in cortical neurons during NRem sleep may facilitate the spread of bisynchronous discharges in generalized epilepsies.
The most common epileptic situations related to sleep include some forms of idiopathic generalized epilepsies such as epilepsy with grand mal (GTC) on awakening and juvenile myoclonic epilepsy (JME) in which myoclonic jerks or generalized convulsion appear typically after awakening and are provoked by sleep deprivation. Sleep is a strong seizure trigger in benign epilepsy of childhood with centrotemporal spikes (BECT) a form of idiopathic (with age-related onset) localization-related epilepsies, in which partial motor seizures occur in sleep in 70–80% of cases and interictal spikes appear only during sleep in about 30% of patients.
Other very rare conditions in which sleep plays a fundamental role in the pathogenetic epileptic process are the Landau–Kleffer syndrome (LKS) and the situation named continuous spikes and waves during sleep (CSWS).
We studied a group of 31 temporal lobe epilepsy
patients (25 left, 6 right) with unilateral hippocampal
sclerosis evident on magnetic resonance imaging. Single
slice T2 relaxation times were acquired for the left and
right hippocampi. Principal components analysis of preoperative
memory data resulted in two factors that reflect a distinction
between arbitrary and semantic forms of verbal recall.
The former component correlated with left hippocampal T2
relaxation time, while the latter component did not. This
study suggests that variation in left hippocampal integrity
is more related to the acquisition of arbitrary associates
than semantically structured material, and reinforces the
possibility that the left temporal lobe is functionally
heterogeneous with respect to memory. (JINS, 2000,
Left-to-right reorganization of verbal memory following
early left hemisphere damage has been reported in patients
whose expressive language is governed by the right hemisphere.
We present a case in which verbal memory performance was
intact, despite severe left mesial temporal damage, and
despite aphasia on left internal carotid sodium amytal
ablation. The distribution and degree of left mesial temporal
damage was assessed visually and quantitatively on MRI.
These findings raise the possibility that verbal memory
may shift to the language-nondominant hemisphere as a result
of early left mesial temporal damage. (JINS, 1999,
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